GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATM R35Xinsufficiently evaluated pathogenicrecessive

Ataxia-Telangiectasia

(64 web hits)

ATM S49Cuncertain pathogenic, f=0.010other

May be associated with a small increased risk of breast cancer.

(151 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS06985-1100-36-ASM
ATM K92Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ATM M94Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
ATM S99Ginsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000005532
ATM I124Vinsufficiently evaluated not reviewed, f=0.003unknown var-GS18508-1100-36-ASM
ATM D126Einsufficiently evaluated none, f=0.069unknown

(37 web hits)

var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
ATM G134Rinsufficiently evaluated not reviewedunknown

(2 web hits)

ATM V182Linsufficiently evaluated not reviewed, f=0.007unknown var-GS19025-1100-36-ASM
ATM R189Kinsufficiently evaluated not reviewed, f=0.154unknown
ATM H276Rinsufficiently evaluated not reviewedunknown
ATM S333Finsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
ATM T452Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
ATM D505Ninsufficiently evaluated noneunknown

(2 web hits)

ATM G514Dinsufficiently evaluated not reviewed, f=0.023unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18505-1100-36-ASM
ATM L546Vinsufficiently evaluated none, f=0.017unknown

(19 web hits)

var-GS18517-1100-36-ASM
ATM P604Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS19017-1100-36-ASM
ATM N635Sinsufficiently evaluated noneunknown

(4 web hits)

ATM L663Shiftpathogenic, f=0.008recessive

Variants in this gene are reported to cause Ataxia-telangiectasia. This one base insertion, which causes a frameshift starting at amino acid 663, is predicted to have a loss of function effect, causing this disease in a recessive manner. Symptoms manifest in early childhood and is usually fatal by early adulthood. Carriers of some loss-of-function ATM variants are reported to be at significant increased risk of breast cancer.

ATM E699Ginsufficiently evaluated not reviewed, f=0.001unknown var-GS19017-1100-36-ASM
ATM S707Puncertain benign, f=0.008unknown

Probably not pathogenic, several papers conclude it is not associated with breast cancer.

(54 web hits)

CGI sample GS00253-DNA_G01_200_37
ATM V731Iinsufficiently evaluated noneunknown
ATM T761Sinsufficiently evaluated not reviewed, f=0.000unknown

(3 web hits)

ATM S788Rinsufficiently evaluated not reviewed, f=0.003unknown var-GS19703-1100-36-ASM
ATM S798Tinsufficiently evaluated noneunknown

(2 web hits)

ATM M812Vinsufficiently evaluated not reviewedunknown
ATM D814Euncertain pathogenic, f=0.006other

May be associated with an increased risk of breast cancer. If so, the size of the effect is unknown.

(7 web hits)

CGI sample GS00253-DNA_E01_200_37
var-GS19020-1100-36-ASM
ATM F858Linsufficiently evaluated not reviewed, f=0.009unknown

colorectal cancer

var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
ATM P872Sinsufficiently evaluated none, f=0.016unknown

(2 web hits)

var-GS18517-1100-36-ASM
ATM D894Ginsufficiently evaluated not reviewedunknown
ATM L984Pinsufficiently evaluated noneunknown

(1 web hit)

ATM M1040Vinsufficiently evaluated pathogenic, f=0.013unknown

(9 web hits)

var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19026-1100-36-ASM
ATM P1054Rinsufficiently evaluated not reviewed, f=0.016unknown var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_D02 from PGP sample 27316983
ATM M1064Linsufficiently evaluated noneunknown
ATM R1265Ginsufficiently evaluated not reviewedunknown
ATM E1313Qinsufficiently evaluated not reviewedunknown

(3 web hits)

ATM Q1361Xinsufficiently evaluated pathogenicunknown
ATM H1380Yinsufficiently evaluated not reviewed, f=0.026unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
ATM H1624Rinsufficiently evaluated not reviewed, f=0.000unknown

(3 web hits)

ATM D1682Hinsufficiently evaluated pathogenicunknown

(4 web hits)

ATM S1691Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
ATM S1770Xinsufficiently evaluated pathogenicunknown
ATM D1853Ninsufficiently evaluated not reviewed, f=0.100unknown

(273 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
ATM D1853Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
ATM N1983Sinsufficiently evaluated not reviewed, f=1.000unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ATM I2030Vinsufficiently evaluated not reviewed, f=0.006unknown var-GS19703-1100-36-ASM
ATM V2079Iuncertain benign, f=0.006unknown

Probably benign.

(2 web hits)

CGI sample GS00253-DNA_B01_200_37
ATM S2146Tinsufficiently evaluated none, f=0.004unknown
ATM L2332Pinsufficiently evaluated none, f=0.009unknown

(1 web hit)

var-GS18517-1100-36-ASM
ATM D2372Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ATM E2423Ginsufficiently evaluated pathogenicunknown

(3 web hits)

ATM V2424Ginsufficiently evaluated pathogenic, f=0.000unknown

(100 web hits)

ATM R2443Xinsufficiently evaluated pathogenicunknown

(20 web hits)

ATM A2525Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
ATM P2588Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
ATM R2613Ginsufficiently evaluated not reviewedunknown
ATM L2656Pinsufficiently evaluated pathogenicunknown
ATM Y2677Cinsufficiently evaluated pathogenicunknown

(1 web hit)

ATM F2827Cinsufficiently evaluated pathogenicunknown

(2 web hits)

ATM T2921Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ATM R3047Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ATMIN T26Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
ATMIN S173Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
ATMIN S240Pinsufficiently evaluated none, f=0.065unknown var-GS19020-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS00253-DNA_G01_200_37
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
ATMIN T279Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
ATMIN K305Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ATMIN R491Xinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
ATMIN E499Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
ATMIN V521Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
ATMIN T541Iinsufficiently evaluated not reviewedunknown CGI sample GS000006909
ATMIN I559Minsufficiently evaluated not reviewedunknown
ATMIN T660Ainsufficiently evaluated none, f=0.016unknown CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_B02_200_37 (hom)
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Total results: 72

Gene search

"GENE" or "GENE A123C":

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