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Links from MedGen

Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:5381584-10067952
ABAT, CARHSP1, GRIN2A, HAPSTR1, METTL22, PMM2, RBFOX1, TMEM114, TMEM186, USP7Chromosome 16p13.3 duplication syndromeLikely pathogenicno assertion criteria provided
2.
GRCh37:
Chr16:109978-4316797
Chromosome 16p13.3 duplication syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter