GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LAMA2 E64Dinsufficiently evaluated noneunknown
LAMA2 I119Tinsufficiently evaluated not reviewedunknown
LAMA2 T178Minsufficiently evaluated not reviewed, f=0.000unknown var-GS19700-1100-36-ASM
LAMA2 A468Ginsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS00253-DNA_B02_200_37
LAMA2 N478Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
LAMA2 C527Yinsufficiently evaluated pathogenicunknown

(3 web hits)

LAMA2 D560Ginsufficiently evaluated none, f=0.000unknown
LAMA2 P564Shiftinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS20509-1100-36-ASM
LAMA2 G600Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
LAMA2 T605Iinsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

LAMA2 I606Vinsufficiently evaluated not reviewedunknown
LAMA2 R619Hinsufficiently evaluated none, f=0.272unknown

(3 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
LAMA2 H644Dinsufficiently evaluated none, f=0.011unknown
LAMA2 C862Rinsufficiently evaluated pathogenicunknown

(3 web hits)

LAMA2 R919Linsufficiently evaluated not reviewed, f=0.046unknown

(7 web hits)

var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19026-1100-36-ASM
LAMA2 C967Xinsufficiently evaluated pathogenicunknown

(2 web hits)

LAMA2 D978Ginsufficiently evaluated not reviewedunknown CGI sample GS000006909
LAMA2 P1033Rinsufficiently evaluated not reviewed, f=0.000unknown
LAMA2 N1099Sinsufficiently evaluated none, f=0.006unknown var-GS18517-1100-36-ASM
LAMA2 V1138Minsufficiently evaluated none, f=0.092unknown

(4 web hits)

hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS21767-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
LAMA2 T1205Ainsufficiently evaluated none, f=0.014unknown hu3215A7 build 36 substitution variants
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18505-1100-36-ASM
LAMA2 Q1241Xinsufficiently evaluated pathogenicunknown

(2 web hits)

LAMA2 H1441Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
LAMA2 R1450Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
LAMA2 A1496Vinsufficiently evaluated not reviewedunknown hu34D5B9 exome
LAMA2 R1549Xinsufficiently evaluated pathogenicunknown

(1 web hit)

LAMA2 G1584Sinsufficiently evaluated not reviewed, f=0.023unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LAMA2 E1590Ginsufficiently evaluated not reviewedunknown
LAMA2 L1635Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
LAMA2 L1651Pinsufficiently evaluated not reviewedunknown
LAMA2 R1844Sinsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
var-GS19670-1100-36-ASM
LAMA2 A1893Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
LAMA2 T2015Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
LAMA2 T2047Iinsufficiently evaluated not reviewedunknown
LAMA2 T2056Kinsufficiently evaluated none, f=0.031unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
LAMA2 T2263Minsufficiently evaluated noneunknown
LAMA2 R2383Xinsufficiently evaluated pathogenicunknown

(1 web hit)

LAMA2 R2475Sinsufficiently evaluated not reviewed, f=0.012unknown var-GS19239-1100-36-ASM
LAMA2 G2545Einsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
var-GS19649-1100-36-ASM
LAMA2 L2564Pinsufficiently evaluated pathogenicunknown

(5 web hits)

LAMA2 R2578Xinsufficiently evaluated pathogenicunknown

(7 web hits)

LAMA2 A2583Vinsufficiently evaluated noneunknown
LAMA2 A2585Vinsufficiently evaluated not reviewed, f=0.637unknown 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)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
LAMA2 A2587Vinsufficiently evaluated noneunknown

(1 web hit)

LAMA2 T2632Ainsufficiently evaluated noneunknown
LAMA2 T2634Ainsufficiently evaluated not reviewed, f=0.080unknown var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
LAMA2 T2636Ainsufficiently evaluated noneunknown

(1 web hit)

LAMA2 I2759Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
LAMA2 R2782Cinsufficiently evaluated not reviewedunknown
LAMA2 R2784Cinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_C01_200_37
LAMA2 R2786Cinsufficiently evaluated not reviewedunknown
LAMA2 N2839Sinsufficiently evaluated noneunknown
LAMA2 N2841Sinsufficiently evaluated not reviewed, f=0.024unknown var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
LAMA2 N2843Sinsufficiently evaluated noneunknown
LAMA2 P2921Linsufficiently evaluated noneunknown
LAMA2 P2923Linsufficiently evaluated not reviewed, f=0.007unknown var-GS18517-1100-36-ASM
LAMA2 P2925Linsufficiently evaluated noneunknown
LAMA2 K3072Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
LAMA2 R3085Xinsufficiently evaluated pathogenicunknown

(2 web hits)

LAMA2 V3113Ginsufficiently evaluated not reviewedunknown
LAMA2 V3117Ginsufficiently evaluated not reviewedunknown
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Total results: 61

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