GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PMM2 C9Yinsufficiently evaluated pathogenicunknown

(19 web hits)

PMM2 D30Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PMM2 L32Rinsufficiently evaluated pathogenicunknown

(21 web hits)

PMM2 V44Ainsufficiently evaluated pathogenicunknown

(19 web hits)

PMM2 D65Yinsufficiently evaluated pathogenicunknown

(39 web hits)

PMM2 P113Linsufficiently evaluated pathogenic, f=0.000unknown

(17 web hits)

PMM2 G117Rinsufficiently evaluated pathogenicunknown

(15 web hits)

PMM2 F119Linsufficiently evaluated pathogenicunknown

(101 web hits)

PMM2 V129Minsufficiently evaluated pathogenicunknown

(26 web hits)

PMM2 I132Tinsufficiently evaluated pathogenicunknown

(6 web hits)

PMM2 R141Hpathogenic, f=0.004recessive

Several different genetic testing groups report this variant causes Carbohydrate-deficient glycoprotein syndrome type I, as recorded in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008145/). ExAC allele frequency data appears to contradict this, as the allele frequency is relatively high: according to their data, 1 in 8,000 with European descent are expected to be homozygous. This seems to be more common than the disease itself, and would seem to contradict this reported effect. However, ExAC data also indicates this may be a low-quality site for sequencing (which may affect ExAC data, and other exome or whole genome data).

(193 web hits)

PMM2 R162Winsufficiently evaluated pathogenicunknown

(9 web hits)

PMM2 D188Ginsufficiently evaluated pathogenicunknown

(22 web hits)

PMM2 E197Ainsufficiently evaluated benign, f=0.019dominant

Association with Congenital disorders of glycosylation type Ia was claimed in 2000, but reports in 2004 and 2005 claim that it is benign.

(19 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 14427241
PMM2 M212Vinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
PMM2 N216Iinsufficiently evaluated pathogenicunknown

(30 web hits)

PMM2 N216Sinsufficiently evaluated pathogenic, f=0.008recessive

(3 web hits)

var-GS19129-1100-36-ASM
PMM2 D223Einsufficiently evaluated pathogenicunknown

(15 web hits)

PMM2 T226Sinsufficiently evaluated pathogenicunknown

(18 web hits)

PMM2 V231Minsufficiently evaluated pathogenicunknown

(27 web hits)

PMM2 T237Rinsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

PMM2 C241Sinsufficiently evaluated pathogenicunknown

(44 web hits)

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Total results: 22

Gene search

"GENE" or "GENE A123C":

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