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Links from MedGen

Items: 1 to 100 of 12608

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
GLikely 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
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)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(L1651M)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(T21R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(S1905*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
(R1249K)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(splice donor variant)
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
(A2626T)
Single nucleotide variant
(missense variant +1 more)
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
(N1326D)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(I2647V)
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
(Y2049H)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(T1662A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(C2770S)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(Q414L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(S706T)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(N3044fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
(E1133*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(T2947A)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(A1634V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(K1454E)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(S917del)
Deletion
(inframe_deletion)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(T2438A)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(G1130V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(L1419I)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(S2057L)
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
(I2948F)
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
(K1773N)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
(E2744K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(A234S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
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
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM
(I923L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(M2805I)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(N3003I)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(N2603Y)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(G2477del)
Deletion
(inframe_deletion +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(K1398E)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
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