GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MYO7A L16Sinsufficiently evaluated not reviewed, f=0.470unknown

(14 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
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 (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
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-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
MYO7A C31Xinsufficiently evaluated pathogenicunknown

(13 web hits)

MYO7A R150Xinsufficiently evaluated pathogenicunknown

(10 web hits)

MYO7A R212Cinsufficiently evaluated pathogenicunknown

(9 web hits)

MYO7A R212Hinsufficiently evaluated pathogenicunknown

(14 web hits)

MYO7A Q234Xinsufficiently evaluated pathogenicunknown

(6 web hits)

MYO7A R244Pinsufficiently evaluated pathogenicunknown

(8 web hits)

MYO7A R302Huncertain benign, f=0.002undefined

Weston, et al. 1996 reported seeing this on the same DNA strand with another variant in a couple cases of Usher Type I syndrome. That other variant was believed to cause disease in a recessive manner, while this variant was speculated to be coincidental observed. ExAC allele frequency data confirms that this variant is merely uncommon in Europeans (1 in 170 are carriers). If it were causal, it would be a well-established cause; the lack of such evidence in the literature confirms that the variant is not a “Mendelian” cause of Usher Type I syndrome.

(13 web hits)

var-GS06985-1100-36-ASM
MYO7A N458Iinsufficiently evaluated pathogenicunknown

(5 web hits)

MYO7A N501Pinsufficiently evaluated not reviewedunknown
MYO7A M599Iinsufficiently evaluated pathogenicunknown

(9 web hits)

MYO7A C628Xinsufficiently evaluated pathogenicunknown

(6 web hits)

MYO7A R666Xinsufficiently evaluated pathogenicunknown

(13 web hits)

MYO7A V679Iinsufficiently evaluated not reviewed, f=0.019unknown var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
MYO7A D746Ninsufficiently evaluated not reviewed, f=0.006unknown var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19026-1100-36-ASM
MYO7A R816Hinsufficiently evaluated not reviewed, f=0.003unknown var-GS18501-1100-36-ASM
MYO7A A1005Vinsufficiently evaluated not reviewedunknown
MYO7A H1029Rinsufficiently evaluated none, f=0.001unknown

(1 web hit)

MYO7A L1179Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
MYO7A R1347Cinsufficiently evaluated noneunknown
MYO7A S1530Linsufficiently evaluated not reviewed, f=0.015unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
MYO7A N1586Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
MYO7A S1628Cinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants
MYO7A V1656Iinsufficiently evaluated not reviewedunknown
MYO7A A1665Vinsufficiently evaluated not reviewedunknown
MYO7A S1666Cinsufficiently evaluated not reviewed, f=0.588unknown

(8 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
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
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
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)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants
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 GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
MYO7A Y1681Cinsufficiently evaluated not reviewedunknown
MYO7A V1694Iinsufficiently evaluated not reviewedunknown
MYO7A A1703Vinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_F01_200_37
MYO7A Y1719Cuncertain benign, f=0.043unknown

Believed to be nonpathogenic. Other variants in this gene cause Usher Syndrome type 1B in a recessive manner, but this variant is fairly common and homozygotes have been reported as unaffected.

(25 web hits)

var-GS19700-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
MYO7A L1916Iinsufficiently evaluated noneunknown

(1 web hit)

MYO7A L1954Iinsufficiently evaluated none, f=0.549unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (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
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
MYO7A V1956Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F06 from PGP sample 64191565
MYO7A D2102Ninsufficiently evaluated noneunknown

(1 web hit)

MYO7A D2142Ninsufficiently evaluated none, f=0.025unknown

(3 web hits)

var-GS19025-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
MYO7A G2214Sinsufficiently evaluated not reviewed, f=0.018unknown var-GS18501-1100-36-ASM
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Total results: 36

Gene search

"GENE" or "GENE A123C":

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