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Results: 6

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:149895814
GRCh38:
Chr1:149923922
SF3B4Nager syndromePathogenic
(Sep 18, 2013)
no assertion criteria provided
2.
SF3B4Nager syndromePathogenic
(Jun 5, 2012)
no assertion criteria provided
3.
GRCh37:
Chr1:149895562
GRCh38:
Chr1:149923670
SF3B4Nager syndromePathogenic
(Sep 18, 2013)
no assertion criteria provided
4.
GRCh37:
Chr1:149895562
GRCh38:
Chr1:149923670
SF3B4Nager syndromePathogenic
(Jun 5, 2012)
no assertion criteria provided
5.
GRCh37:
Chr1:149899651
GRCh38:
Chr1:149927759
SF3B4Nager syndromePathogenic
(Jun 5, 2012)
no assertion criteria provided
6.
EFTUD2Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palatePathogenic
(Jun 5, 2013)
no assertion criteria provided

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