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Items: 1 to 100 of 16011

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ACAT1
+387 more
Copy number loss
See cases
GPathogenic
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ATM, LOC128772354
+2 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Single nucleotide variant
(genic upstream transcript variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
Ataxia-telangiectasia syndrome
GUncertain significance
LOC128772356, LOC129390352
+8 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Single nucleotide variant
Familial cancer of breast
+2 more
GUncertain significance
ATM
Single nucleotide variant
not provided
+1 more
GLikely benign
ATM
Single nucleotide variant
not specified
GUncertain significance
ATM
Single nucleotide variant
not specified
GUncertain significance
ATM
Single nucleotide variant
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
not specified
GUncertain significance
ATM
Deletion
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, LOC130006700
Single nucleotide variant
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, LOC130006700
Single nucleotide variant
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, LOC130006700
Single nucleotide variant
not specified
GUncertain significance
ATM, LOC130006700
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
ATM, LOC130006700
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
ATM, LOC130006700
Indel
(5 prime UTR variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, LOC130006700
Single nucleotide variant
(5 prime UTR variant)
Ataxia-telangiectasia syndrome
+1 more
GBenign
ATM, LOC130006700
Single nucleotide variant
(5 prime UTR variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
LOC130006700, ATM
Single nucleotide variant
(5 prime UTR variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
ATM
Duplication
(5 prime UTR variant)
not specified
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
not provided
GBenign
ATM
Insertion
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(intron variant)
not specified
GBenign
ATM
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATM
Single nucleotide variant
(intron variant)
not provided
GBenign
ATM
Single nucleotide variant
(intron variant)
not provided
GBenign
ATM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATM
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ATM
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
ATM
Microsatellite
not specified
GLikely benign
ATM
Single nucleotide variant
(splice acceptor variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign/Likely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ATM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATM, LOC129390352
+1 more
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
+4 more
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
+4 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
C11orf65, LOC128772356
+4 more
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, LOC128772356
+2 more
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, LOC128772356
+2 more
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(M1L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
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
(M1I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM
(S2G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(S2N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
(S2T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATM
(S2R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATM
(S2R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(L3P)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(L3fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
ATM
(V4I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(V4L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
ATM
(V4A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM
(L5F)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(L5V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(N6*)
Duplication
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(N6fs)
Deletion
(frameshift variant)
Familial cancer of breast
GLikely pathogenic
ATM
(L5R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(L5fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
ATM
(N6fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(N6fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
(D7del)
Deletion
(inframe_deletion)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM
(D7Y)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(D7H)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
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