Project HERA

ATM variants

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

116 variants page 1 of 2

ATM variants

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

100 shown
Variant
Protein change
Classification
ATM NM_000051.4:c.3077+1G>A
NP_000042.3:p.?
Pathogenic
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ATM NM_000051.4:c.3077+1G>A
NP_000042.3:p.?
Likely Pathogenic
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ATM NM_000051.4:c.7630-2A>C
NP_000042.3:p.?
Likely Pathogenic
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ATM NM_000051.4:c.7630-2A>C
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.6897C>T
NP_000042.3:p.(F2299=)
Likely Benign
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ATM NM_000051.4:c.1261T>A
NP_000042.3:p.(S421T)
VUS
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ATM NM_000051.4:c.858A>G
NP_000042.3:p.(Q286=)
VUS
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ATM NM_000051.4:c.2377-18T>C
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.5868C>T
NP_000042.3:p.(L1956=)
Likely Benign
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ATM NM_000051.4:c.8735_8751del
NP_000042.3:p.(R2912Nfs*7)
Pathogenic
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ATM NM_000051.4:c.182T>G
NP_000042.3:p.(F61C)
VUS
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ATM NM_000051.4:c.3285-15C>T
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.7308-9C>T
NP_000042.3:p.?
VUS
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ATM NM_000051.4:c.5937A>G
NP_000042.3:p.(E1979=)
Likely Benign
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ATM NM_000051.4:c.6317A>T
NP_000042.3:p.(N2106I)
VUS
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ATM NM_000051.4:c.8292_8293del
NP_000042.3:p.(S2764Rfs*4)
Pathogenic
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ATM NM_000051.4:c.2552A>G
NP_000042.3:p.(D851G)
Likely Benign
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ATM NM_000051.3:c.7031G>A
NP_000042.3:p.(W2344*)
Pathogenic
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ATM NM_000051.4:c.2638+11A>G
NP_000042.3:p.?
Likely Benign
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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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