GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
MYH9 L46Finsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
MYH9 N93Kinsufficiently evaluated pathogenicunknown

(31 web hits)

MYH9 S96Linsufficiently evaluated pathogenicunknown

(27 web hits)

MYH9 E271Dinsufficiently evaluated not reviewedunknown
MYH9 R702Cinsufficiently evaluated pathogenicunknown

(103 web hits)

MYH9 R702Hinsufficiently evaluated pathogenicunknown

(47 web hits)

MYH9 R705Hinsufficiently evaluated pathogenicunknown

(53 web hits)

MYH9 T1155Iinsufficiently evaluated pathogenicunknown

(7 web hits)

MYH9 R1165Cinsufficiently evaluated pathogenicunknown

(62 web hits)

MYH9 R1400Wuncertain benign, f=0.001unknown

Probably a rare nonpathogenic polymorphism.

(5 web hits)

MYH9 D1424Ninsufficiently evaluated pathogenicunknown

(83 web hits)

MYH9 D1424Hinsufficiently evaluated pathogenicunknown

(33 web hits)

MYH9 R1466Winsufficiently evaluated pathogenic, f=0.004unknown

Predicted to be damaging, other substitutions in this gene cause a variety of dominantly-inherited syndromes. This variant is reported homozygously in one PGP participant and not seen in the other 63 genomes examined by GET-Evidence — this is extremely unlikely. This variant hasn’t been validated and may be a sequencing error.

CGI sample GS00253-DNA_G01_200_37 (hom)
MYH9 A1484Einsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
MYH9 I1626Vinsufficiently evaluated not reviewed, f=0.153unknown

(16 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_A01_200_37
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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_B01 from PGP sample 86206034
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM (hom)
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
MYH9 E1693Ginsufficiently evaluated noneunknown
MYH9 K1775Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
MYH9 E1841Kinsufficiently evaluated pathogenicunknown

(110 web hits)

MYH9 R1933Xinsufficiently evaluated pathogenicunknown

(92 web hits)

MYH9 A1939Tinsufficiently evaluated not reviewed, f=0.005unknown var-GS19239-1100-36-ASM
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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