S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 10

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:120460308
GRCh38:
Chr1:119917685
NOTCH2Alagille syndrome 2, Hajdu-Cheney syndromePathogenic
(Sep 6, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr1:120460386
GRCh38:
Chr1:119917763
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
3.
GRCh37:
Chr1:120461100
GRCh38:
Chr1:119918477
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
4.
GRCh37:
Chr1:120461101
GRCh38:
Chr1:119918478
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
5.
GRCh37:
Chr1:120491662-120491663
GRCh38:
Chr1:119949039-119949040
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
6.
GRCh37:
Chr1:120510071
GRCh38:
Chr1:119967448
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
7.
GRCh37:
Chr1:120510178
GRCh38:
Chr1:119967555
NOTCH2Alagille syndrome 2Pathogenic
(Jul 1, 2006)
no assertion criteria provided
8.
GRCh37:
Chr1:120510784
GRCh38:
Chr1:119968161
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
9.
GRCh37:
Chr1:120510817
GRCh38:
Chr1:119968194
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
10.
GRCh37:
Chr1:120510847
GRCh38:
Chr1:119968224
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
Format
Items per page
Sort by

Download:

Choose Destination
Support Center