GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TGM1 R6Cinsufficiently evaluated not reviewed, f=0.000unknown hu232307 build 36 substitution variants
TGM1 G17Sinsufficiently evaluated pathogenicunknown
TGM1 S42Yinsufficiently evaluated pathogenic, f=0.004unknown

(2 web hits)

TGM1 S82Finsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
TGM1 G94Dinsufficiently evaluated pathogenicunknown

(1 web hit)

TGM1 R141Hinsufficiently evaluated pathogenicunknown

(12 web hits)

TGM1 R142Cinsufficiently evaluated pathogenicunknown

(12 web hits)

TGM1 R142Hinsufficiently evaluated pathogenicunknown

(20 web hits)

TGM1 S160Cinsufficiently evaluated pathogenicunknown

(2 web hits)

TGM1 I245Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
TGM1 G278Rinsufficiently evaluated pathogenicunknown

(4 web hits)

TGM1 R286Qinsufficiently evaluated pathogenicunknown

(2 web hits)

TGM1 N288Tinsufficiently evaluated pathogenicunknown

(10 web hits)

TGM1 R306Winsufficiently evaluated pathogenicunknown

(12 web hits)

TGM1 Y312Shiftlikely pathogenic, f=0.008recessive

No known reports, but predicted to be highly disruptive and cause congenital ichthyosis in a recessive manner.

CGI sample GS00253-DNA_B01_200_37
TGM1 R323Qinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

TGM1 V378Linsufficiently evaluated pathogenicunknown

(2 web hits)

TGM1 V382Minsufficiently evaluated pathogenicunknown

(1 web hit)

TGM1 R388Hinsufficiently evaluated pathogenicunknown

(6 web hits)

TGM1 G392Dinsufficiently evaluated pathogenicunknown

(1 web hit)

TGM1 R395Linsufficiently evaluated pathogenicunknown

(2 web hits)

TGM1 D490Ginsufficiently evaluated pathogenicunknown

(4 web hits)

TGM1 V518Muncertain benign, f=0.011undefined

Probably a non-pathogenic polymorphism. It was initially thought to be involved in autosomal recessive congenital ichthyosis, but later authors found the variant in numerous healthy controls.

(9 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19669-1100-36-ASM
TGM1 E520Glikely pathogenic, f=0.006recessive

This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance.

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
TGM1 R607Cinsufficiently evaluated not reviewed, f=0.006unknown var-GS18502-1100-36-ASM
TGM1 A700Plikely pathogenic, f=0.008recessive

Unreported, predicted to be damaging. Other recessive missense mutations in this gene are reported to cause ichthyosis.

CGI sample GS00253-DNA_G01_200_37
TGM1 S755Linsufficiently evaluated not reviewed, f=0.005unknown var-GS19701-1100-36-ASM
TGM1 S755Winsufficiently evaluated not reviewedunknown
TGM1 D802Vinsufficiently evaluated none, f=0.003unknown

(1 web hit)

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Total results: 29

Gene search

"GENE" or "GENE A123C":

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