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Items: 8

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:109465071
GRCh38:
Chr1:108922449
GPSM2Chudley-McCullough syndrome, not provided, GPSM2-Related Disorders
Pathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr1:109440625-109440626
GRCh38:
Chr1:108898003-108898004
GPSM2Chudley-McCullough syndromePathogenic
(Oct 19, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr1:109445857
GRCh38:
Chr1:108903235
GPSM2Chudley-McCullough syndrome, not specifiedPathogenic
(Nov 2, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:109466682
GRCh38:
Chr1:108924060
GPSM2Chudley-McCullough syndrome, not providedPathogenic
(Dec 19, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr1:109441561
GRCh38:
Chr1:108898939
GPSM2Chudley-McCullough syndrome, not providedPathogenic
(Jun 9, 2016)
criteria provided, multiple submitters, no conflicts
6.
GPSM2Chudley-McCullough syndromePathogenic
(Jun 8, 2012)
no assertion criteria provided
7.
GRCh37:
Chr1:109466705
GRCh38:
Chr1:108924083
GPSM2Chudley-McCullough syndromePathogenic
(Jun 8, 2012)
no assertion criteria provided
8.
GRCh37:
Chr1:109440214
GRCh38:
Chr1:108897592
GPSM2Chudley-McCullough syndrome, Autosomal recessive non-syndromic sensorineural deafness type DFNBPathogenic
(Jun 4, 2016)
no assertion criteria provided
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