GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LAMA3 P17Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_B02 from PGP sample 94378523
LAMA3 R200Qinsufficiently evaluated none, f=0.001unknown var-GS18517-1100-36-ASM
LAMA3 V217Einsufficiently evaluated noneunknown
LAMA3 A346Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS18508-1100-36-ASM
LAMA3 K460Xinsufficiently evaluated noneunknown
LAMA3 S467Ainsufficiently evaluated not reviewedunknown
LAMA3 K516Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which would be expected to cause a severe pathogenic phenotype in a recessive manner. There are no reports regarding this variant. Other mutations in this gene are associated with causing junctional epidermolysis bullosa (lethal and non-lethal) in a recessive manner, and there are lethal variants listed in OMIM occurring after this variant’s position. Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

LAMA3 S523Ainsufficiently evaluated not reviewedunknown
LAMA3 D598Ginsufficiently evaluated not reviewedunknown
LAMA3 S611Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
LAMA3 R650Xinsufficiently evaluated pathogenicunknown

(19 web hits)

LAMA3 D654Ginsufficiently evaluated not reviewedunknown
LAMA3 W758Xinsufficiently evaluated noneunknown
LAMA3 M786Linsufficiently evaluated not reviewedunknown
LAMA3 T796Ninsufficiently evaluated none, f=0.034unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
LAMA3 M842Linsufficiently evaluated not reviewedunknown
LAMA3 G851Rinsufficiently evaluated not reviewedunknown
LAMA3 G907Rinsufficiently evaluated not reviewedunknown
LAMA3 T1037Ainsufficiently evaluated noneunknown
LAMA3 T1093Ainsufficiently evaluated noneunknown
LAMA3 R1118Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
LAMA3 L1124Rinsufficiently evaluated none, f=0.003unknown var-GS18517-1100-36-ASM
LAMA3 N1150Kinsufficiently evaluated noneunknown
LAMA3 S1169Ginsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
LAMA3 N1206Kinsufficiently evaluated noneunknown
LAMA3 V1206Ainsufficiently evaluated none, f=0.037unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19026-1100-36-ASM
LAMA3 P1208Tinsufficiently evaluated none, f=0.048unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
LAMA3 S1225Ginsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
LAMA3 G1260Rinsufficiently evaluated not reviewedunknown
LAMA3 G1316Rinsufficiently evaluated not reviewedunknown
LAMA3 Q1368Xinsufficiently evaluated pathogenicunknown

(2 web hits)

LAMA3 R1387Qinsufficiently evaluated not reviewed, f=0.002unknown
LAMA3 S1453Ninsufficiently evaluated noneunknown
LAMA3 S1509Ninsufficiently evaluated noneunknown
LAMA3 H1532Rinsufficiently evaluated not reviewedunknown
LAMA3 H1588Rinsufficiently evaluated not reviewedunknown
LAMA3 V1826Einsufficiently evaluated noneunknown
LAMA3 K2069Xinsufficiently evaluated noneunknown
LAMA3 S2076Ainsufficiently evaluated not reviewedunknown
LAMA3 E2121Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LAMA3 S2123Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
LAMA3 K2125Xinsufficiently evaluated noneunknown
LAMA3 S2132Ainsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B02_200_37
LAMA3 D2207Ginsufficiently evaluated not reviewedunknown
LAMA3 D2263Ginsufficiently evaluated not reviewedunknown
LAMA3 M2395Linsufficiently evaluated not reviewedunknown
LAMA3 M2451Linsufficiently evaluated not reviewedunknown
LAMA3 G2460Rinsufficiently evaluated not reviewedunknown
LAMA3 N2502Sinsufficiently evaluated not reviewedunknown hu34D5B9 exome
LAMA3 G2516Rinsufficiently evaluated not reviewed, f=0.000unknown
LAMA3 T2646Ainsufficiently evaluated noneunknown
LAMA3 T2702Ainsufficiently evaluated none, f=0.014unknown var-GS19129-1100-36-ASM
LAMA3 N2759Kinsufficiently evaluated noneunknown
LAMA3 S2778Ginsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
LAMA3 N2815Kinsufficiently evaluated none, f=0.152unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LAMA3 S2834Ginsufficiently evaluated not reviewed, f=1.000unknown 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 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)
LAMA3 G2869Rinsufficiently evaluated not reviewedunknown
LAMA3 G2889Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
LAMA3 G2925Rinsufficiently evaluated not reviewed, f=0.000unknown
LAMA3 S3062Ninsufficiently evaluated noneunknown
LAMA3 S3118Ninsufficiently evaluated none, f=0.000unknown var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM
LAMA3 H3141Rinsufficiently evaluated not reviewedunknown
LAMA3 T3192Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19238-1100-36-ASM
LAMA3 H3197Rinsufficiently evaluated not reviewed, f=0.004unknown var-GS19025-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM
LAMA3 A3217Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
var-GS19704-1100-36-ASM
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Total results: 65

Gene search

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