GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HMCN1 N262Sinsufficiently evaluated none, f=0.002unknown var-GS18517-1100-36-ASM
HMCN1 E722Kinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
HMCN1 R940Hinsufficiently evaluated not reviewed, f=0.000unknown
HMCN1 N1007Iinsufficiently evaluated none, f=0.030unknown

(4 web hits)

var-GS18504-1100-36-ASM
var-GS18517-1100-36-ASM
HMCN1 T1056Ainsufficiently evaluated none, f=0.180unknown

(4 web hits)

var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
HMCN1 V1184Finsufficiently evaluated none, f=0.013unknown var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
HMCN1 N1468Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
HMCN1 T1480Iinsufficiently evaluated none, f=0.027unknown

(1 web hit)

var-GS18504-1100-36-ASM
HMCN1 M1700Iinsufficiently evaluated not reviewedunknown
HMCN1 V1822Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
HMCN1 L1961Finsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
HMCN1 G1963Vinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18940-1100-36-ASM
HMCN1 N1971Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
HMCN1 Q1974Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
HMCN1 V2237Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
HMCN1 I2303Tinsufficiently evaluated not reviewed, f=0.012unknown var-GS19703-1100-36-ASM
HMCN1 M2327Iinsufficiently evaluated not reviewed, f=0.020unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
HMCN1 I2418Tinsufficiently evaluated none, f=0.525unknown

(7 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
CGI sample GS01173-DNA_F06 from PGP sample 64191565
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
CGI sample GS01175-DNA_D01 from PGP sample 31286272
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
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
HMCN1 T2500Iinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_F01_200_37
HMCN1 T2504Kinsufficiently evaluated not reviewed, f=0.011unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18505-1100-36-ASM
HMCN1 E2524Ginsufficiently evaluated not reviewedunknown
HMCN1 L2551Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS18502-1100-36-ASM
HMCN1 L2756Sinsufficiently evaluated not reviewedunknown
HMCN1 R2837Winsufficiently evaluated none, f=0.011unknown

(2 web hits)

var-GS19834-1100-36-ASM
var-GS18505-1100-36-ASM
HMCN1 E2893Ginsufficiently evaluated not reviewed, f=0.554unknown

(29 web hits)

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
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
HMCN1 I2930Tinsufficiently evaluated not reviewed, f=0.006unknown var-GS18502-1100-36-ASM
HMCN1 G2939Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS18558-1100-36-ASM
HMCN1 K2953Xinsufficiently evaluated noneunknown
HMCN1 Y3033Hinsufficiently evaluated not reviewedunknown CGI sample GS000006909
HMCN1 R3131Kinsufficiently evaluated not reviewed, f=0.001unknown
HMCN1 I3133Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM
HMCN1 D3174Einsufficiently evaluated none, f=0.000unknown
HMCN1 Q3492Kinsufficiently evaluated not reviewed, f=0.003unknown var-GS19704-1100-36-ASM
HMCN1 G3566Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
HMCN1 P3808Linsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
HMCN1 N3840Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
HMCN1 T3879Rinsufficiently evaluated not reviewedunknown
HMCN1 V3980Minsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
var-GS18505-1100-36-ASM
HMCN1 H4084Yinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
HMCN1 P4108Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
HMCN1 P4189Linsufficiently evaluated not reviewedunknown
HMCN1 V4191Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
var-GS18505-1100-36-ASM
HMCN1 V4314Ainsufficiently evaluated not reviewed, f=0.011unknown var-GS19834-1100-36-ASM
var-GS18505-1100-36-ASM
HMCN1 K4352Rinsufficiently evaluated none, f=0.014unknown var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
HMCN1 Q4437Rinsufficiently evaluated none, f=0.372unknown

(8 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS21767-1100-36-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 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
HMCN1 S4647Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
HMCN1 Q4650Hinsufficiently evaluated none, f=0.005unknown

(1 web hit)

HMCN1 A4720Tinsufficiently evaluated none, f=0.074unknown

(1 web hit)

var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18940-1100-36-ASM
HMCN1 D4981Yinsufficiently evaluated not reviewedunknown

(2 web hits)

HMCN1 D5087Vinsufficiently evaluated none, f=0.095unknown

(4 web hits)

var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
HMCN1 H5244Qinsufficiently evaluated none, f=0.001unknown var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
HMCN1 I5255Tinsufficiently evaluated not reviewed, f=0.001unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
HMCN1 Q5345Rinsufficiently evaluated pathogenic, f=0.001unknown

(5 web hits)

HMCN1 G5351Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
HMCN1 R5412Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
HMCN1 D5440Ninsufficiently evaluated none, f=0.003unknown

(1 web hit)

HMCN1 Q5462Rinsufficiently evaluated none, f=0.003unknown
HMCN1 C5516Rinsufficiently evaluated not reviewedunknown
Page: 1 2 3 4 5 6
Total results: 58

Gene search

"GENE" or "GENE A123C":

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