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Links from MedGen

Items: 6

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:116744389
GRCh38:
Chr11:116873673
SIK3Spondyloepimetaphyseal dysplasia, Krakow typeBenign
(Jul 15, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr11:116734545
GRCh38:
Chr11:116863829
SIK3Spondyloepimetaphyseal dysplasia, Krakow typeBenign
(Jul 15, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr11:116732512
GRCh38:
Chr11:116861796
SIK3Spondyloepimetaphyseal dysplasia, Krakow typeBenign
(Jul 15, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr11:116728630
GRCh38:
Chr11:116857914
SIK3P1076R, P1136R, P1184R, P917RSpondyloepimetaphyseal dysplasia, Krakow typeBenign
(Jul 15, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr11:116728889
GRCh38:
Chr11:116858173
SIK3A1098T, A1050T, A990T, A831TSpondyloepimetaphyseal dysplasia, Krakow type, not providedBenign/Likely benign
(Nov 11, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:116797992
GRCh38:
Chr11:116927276
SIK3R187C, R28CSpondyloepimetaphyseal dysplasia, Krakow typePathogenic
(Apr 15, 2020)
no assertion criteria provided
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