variant points - PowerPoint Presentations and PDF Documents

ClinGen Sequence Variant Interpretation Recommendation for de novo Cri

by holly

-Version 11 Working Group Pagehttps//clinicalgenom...

BioCuration Call: Sequence Variant Interpretation WG Update

by Littlespud

Steven Harrison (. sharrison@bwh.harvard.edu. ). M...

CNV J arr [GRCh37] 3q28 (190380498_191783134)x1

by alyssa

No phenotype or inheritance information provided. ...

Case P arr [GRCh37] 17q21.2

by Princecharming

(39529437_39545915) x3 mat. 10-year-old female wit...

Case Z arr [GRCh37] 19p13.11(18291753_18311626) x3

by berey

2-month-old female with Tetralogy of Fallot; inher...

Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (

by ivy

dn. ). 5-year-old female with developmental delay;...

Case N arr [GRCh37] 10q22.2

by blanko

(76738122-76743018) x3 . 4 year old female with de...

Case F arr [GRCh37] 1p36.33

by harmony

(1379519_1435227)x1. 2-month-old female with unila...

Hearing Loss CDWG Curation

by leah

Update. Biocurator. Call. 5.11.17. Marina DiStefa...

Case S arr [GRCh37] 3q26.32

by paisley

(175816894_177834521)x3 mat. 6-year-old male with ...

Case T arr [GRCh37] 1q22

by ceila

(155887333_156224120) x3. Newborn with unspecified...

Case E arr [GRCh37] 15q13.2

by miller

(30507853_30807921) x1 pat. 6 month old male with ...

Be the first to reach the centre of theboard with your 4 pieces.Each p

by spiderslipk

Ludo & Co Games rules

ClinGen RASopathy EP Gene Curation

by morton

Biocurator Working Group Presentation. 5.10.2018. ...

CNV J arr[GRCh37] 3q28 (190380498_191783134)x1 No

by alexa-scheidler

CNV J arr[GRCh37] 3q28 (190380498_191783134)x1 No ...

Case Z arr[GRCh37] 19p13.11(18291753_18311626) x3

by jane-oiler

Case Z arr[GRCh37] 19p13.11(18291753_18311626) x3 ...

Search Results for 'variant points'