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Links from MedGen

Items: 1 to 100 of 12675

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
(P1759fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
(S2242*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Duplication
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
+1 more
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Duplication
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Duplication
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Duplication
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Duplication
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
+2 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GUncertain significance
ACAT1, ATM
+1 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ACAT1, ATM
+3 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Deletion
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Y2677*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
(I2559fs)
Duplication
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(F582fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
(G3023fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Deletion
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
(S644P)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(S2259Y)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GBenign/Likely benign
ATM
(K482E)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(E1677fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
(V170L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(Q222R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(H943R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(Q2414R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(T878I)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(E2814Q)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(S1584G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(T1908A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(S1137G)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(E518del)
Deletion
(inframe_deletion)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(Q91P)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(E2660K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(H448L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
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