Project HERA

ATM variants

Every ATM variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

97 variants

ATM variants

Newest first. Each row opens the full report, criterion by criterion.

97 shown
Variant
Protein change
Classification
ATM NM_000051.4:c.1039G>T
NP_000042.3:p.(E347*)
Pathogenic
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ATM NM_000051.4:c.2552A>G
NP_000042.3:p.(D851G)
VUS
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ATM NM_000051.4:c.2638+11A>G
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.1440A>C
NP_000042.3:p.(L480F)
VUS
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ATM NM_000051.4:c.7243G>C
NP_000042.3:p.(A2415P)
VUS
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ATM NM_000051.4:c.7243G>C
NP_000042.3:p.(A2415P)
VUS
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ATM NM_000051.4:c.9049C>T
NP_000042.3:p.(L3017=)
Likely Benign
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ATM NM_000051.4:c.5503del
NP_000042.3:p.(T1835Lfs*11)
Pathogenic
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ATM NM_000051.4:c.5692C>T
NP_000042.3:p.(R1898*)
Pathogenic
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ATM NM_000051.4:c.6975+13dup
NP_000042.3:p.?
Likely Benign
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ATM NM_000051.4:c.7628dup
NP_000042.3:p.(N2543Kfs*5)
Pathogenic
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ATM NM_000051.4:c.4324T>C
NP_000042.3:p.(Y1442H)
VUS
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ATM NM_000051.4:c.4394T>C
NP_000042.3:p.(L1465P)
VUS
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ATM NM_000051.3:c.1348G>T
NP_000042.3:p.(E450*)
Pathogenic
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ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
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ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
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ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
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ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
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ATM NM_000051.4:c.5574G>A
NP_000042.3:p.(W1858*)
Pathogenic
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ATM NM_000051.4:c.4231del
NP_000042.3:p.(S1411Afs*40)
Pathogenic
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ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
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ATM NM_000051.4:c.838A>G
NP_000042.3:p.(I280V)
VUS
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ATM NM_000051.4:c.838A>G
NP_000042.3:p.(I280V)
VUS
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ATM NM_000051.4:c.273dup
NP_000042.3:p.(K92Efs*8)
Pathogenic
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ATM NM_000051.4:c.838A>G
NP_000042.3:p.(I280V)
VUS
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ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
VUS
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ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
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ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
VUS
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ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
VUS
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ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
Likely Benign
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ATM NM_000051.4:c.103C>A
NP_000042.3:p.(R35=)
Likely Benign
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ATM NM_000051.4:c.7835G>A
NP_000042.3:p.(R2612K)
VUS
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ATM NM_000051.4:c.8787-26C>T
NP_000042.3:p.?
Likely Benign
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ATM NM_000051.4:c.4997A>C
NP_000042.3:p.(E1666A)
VUS
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ATM NM_000051.4:c.7913G>A
NP_000042.3:p.(W2638*)
Pathogenic
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ATM NM_000051.3:c.7527G>A
NP_000042.3:p.(M2509I)
VUS
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ATM NM_000051.4:c.4574T>C
NP_000042.3:p.(I1525T)
VUS
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ATM NM_000051.3:c.4110_4111delinsAA
NP_000042.3:p.(D1371N)
VUS
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ATM NM_000051.4:c.7875_7876delinsGC
NP_000042.3:p.(D2625_A2626delinsEP)
VUS
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ATM NM_000051.4:c.7875T>G
NP_000042.3:p.(D2625E)
VUS
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ATM NM_000051.4:c.8419-7T>G
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.7357C>T
NP_000042.3:p.(R2453C)
VUS
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ATM NM_000051.4:c.7927+13T>A
NP_000042.3:p.?
Likely Benign
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ATM NM_000051.3:c.4818dup
NP_000042.3:p.(P1607Sfs*6)
Pathogenic
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ATM NM_000051.3:c.8056T>C
NP_000042.3:p.(F2686L)
VUS
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ATM NM_000051.4:c.2522A>C
NP_000042.3:p.(D841A)
Likely Benign
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ATM NM_000051.4:c.2689T>A
NP_000042.3:p.(F897I)
Likely Benign
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ATM NM_000051.4:c.9139C>T
NP_000042.3:p.(R3047*)
VUS
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ATM NM_000051.4:c.7486G>C
NP_000042.3:p.(G2496R)
VUS
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ATM NM_000051.4:c.7974T>C
NP_000042.3:p.(N2658=)
Likely Benign
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ATM NM_000051.4:c.5488A>G
NP_000042.3:p.(M1830V)
Likely Benign
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ATM NM_000051.3:c.8174A>G
NP_000042.3:p.(D2725G)
VUS
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ATM NM_000051.4:c.662+13_662+14del
NP_000042.3:p.?
Likely Benign
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ATM NM_000051.4:c.1009C>T
NP_000042.3:p.(R337C)
VUS
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ATM NM_000051.4:c.6572+11C>T
NP_000042.3:p.?
Likely Benign
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ATM NM_000051.4:c.2873A>G
NP_000042.3:p.(E958G)
Benign
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ATM NM_000051.4:c.9041_9042del
NP_000042.3:p.(Q3014Rfs*48)
Likely Pathogenic
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ATM NM_000051.4:c.5983G>T
NP_000042.3:p.(E1995*)
Pathogenic
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ATM NM_000051.4:c.7381C>T
NP_000042.3:p.(R2461C)
VUS
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ATM NM_000051.4:c.5164del
NP_000042.3:p.(L1722Wfs*2)
Pathogenic
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ATM NM_000051.4:c.8047A>G
NP_000042.3:p.(I2683V)
VUS
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ATM NM_000051.4:c.5600A>G
NP_000042.3:p.(Q1867R)
VUS
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ATM NM_000051.4:c.1355del
NP_000042.3:p.(T452Nfs*21)
Pathogenic
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ATM NM_000051.4:c.662+13_662+14del
NP_000042.3:p.?
Likely Benign
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ATM NM_000051.3:c.8546G>C
NP_000042.3:p.(R2849P)
VUS
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ATM NM_000051.3:c.5544T>C
NP_000042.3:p.(D1848=)
VUS
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ATM NM_000051.3:c.8751C>T
NP_000042.3:p.(G2917=)
Likely Benign
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ATM NM_000051.4:c.4247A>G
NP_000042.3:p.(Q1416R)
VUS
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ATM NM_000051.4:c.8155C>T
NP_000042.3:p.(R2719C)
VUS
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ATM NM_000051.4:c.8261C>T
NP_000042.3:p.(T2754I)
VUS
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ATM NM_000051.4:c.5178-28T>A
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.6801C>T
NP_000042.3:p.(N2267=)
VUS
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ATM NM_000051.4:c.6733G>A
NP_000042.3:p.(E2245K)
VUS
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ATM NM_000051.4:c.419A>T
NP_000042.3:p.(D140V)
VUS
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ATM NM_000051.4:c.6200C>A
NP_000042.3:p.(A2067D)
Likely Pathogenic
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ATM NM_000051.3:c.5681_5682del
NP_000042.3:p.(E1894Afs*9)
Pathogenic
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ATM NM_000051.3:c.1158del
NP_000042.3:p.(K387Rfs*3)
Pathogenic
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ATM NM_000051.3:c.3118A>G
NP_000042.3:p.(M1040V)
Benign
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ATM NM_000051.3:c.4158dup
NP_000042.3:p.(K1387*)
Pathogenic
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ATM NM_000051.3:c.2413C>T
NP_000042.3:p.(R805*)
Pathogenic
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ATM NM_000051.3:c.8161G>A
NP_000042.3:p.(D2721N)
VUS
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ATM NM_000051.4:c.2930G>A
NP_000042.3:p.(C977Y)
VUS
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ATM NM_000051.4:c.8418+5_8418+8del
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.8052_8055del
NP_000042.3:p.(Q2684Hfs*8)
Pathogenic
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ATM NM_000051.4:c.4300A>T
NP_000042.3:p.(K1434*)
Pathogenic
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ATM NM_000051.3:c.67C>T
NP_000042.3:p.(R23*)
Pathogenic
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ATM NM_000051.3:c.5515C>T
NP_000042.3:p.(Q1839*)
Pathogenic
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ATM NM_000051.3:c.4397_4398delinsCG
NP_000042.3:p.(R1466P)
VUS
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ATM NM_000051.4:c.2222A>G
NP_000042.3:p.(Y741C)
VUS
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ATM NM_000051.4:c.8315del
NP_000042.3:p.(G2772Efs*34)
Pathogenic
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ATM NM_000051.4:c.7517_7520del
NP_000042.3:p.(R2506Tfs*3)
Pathogenic
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ATM NM_000051.4:c.2333A>G
NP_000042.3:p.(N778S)
VUS
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ATM NM_000051.4:c.8362C>T
NP_000042.3:p.(H2788Y)
VUS
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ATM NM_000051.4:c.3137T>C
NP_000042.3:p.(L1046P)
Likely Pathogenic
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ATM NM_000051.4:c.6059G>T
NP_000042.3:p.(G2020V)
VUS
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ATM NM_000051.4:c.2207C>T
NP_000042.3:p.(A736V)
VUS
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ATM NM_000051.4:c.8395_8404del
NP_000042.3:p.(F2799Kfs*4)
Likely Pathogenic
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