S I D E B A R
Format
Sort by

Download:

Choose Destination

Search results

Items: 4

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:20202928
GRCh38:
Chr2:20003167
MATN3, LOC101928222Spondyloepimetaphyseal dysplasia Matrilin-3 related, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATEDPathogenic
(Jul 25, 2013)
no assertion criteria provided
2.
GRCh37:
Chr2:20205934
GRCh38:
Chr2:20006173
MATN3Multiple epiphyseal dysplasia 5Pathogenic
(Jul 25, 2013)
no assertion criteria provided
3.
GRCh37:
Chr2:20205936
GRCh38:
Chr2:20006175
MATN3Multiple epiphyseal dysplasia 5Pathogenic
(Jul 25, 2013)
no assertion criteria provided
4.
GRCh37:
Chr2:20212184
GRCh38:
Chr2:20012423
MATN3Multiple epiphyseal dysplasia 5, Multiple Epiphyseal Dysplasia, DominantPathogenic
(Jul 25, 2013)
no assertion criteria provided
Format
Sort by

Download:

Choose Destination
Support Center