ClinVar for MedGen (Select 342400) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12634031.	NM_001330677.2(TBX15):c.694-49T>C GRCh37: Chr1:119466275 GRCh38: Chr1:118923652	TBX15		Pelviscapular dysplasia, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10291932.	NM_001330677.2(TBX15):c.943A>G (p.Ile315Val) GRCh37: Chr1:119441732 GRCh38: Chr1:118899109	TBX15	I209V, I315V	Pelviscapular dysplasia	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 2896943.	NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) GRCh37: Chr1:119427839 GRCh38: Chr1:118885216	TBX15	R336K, R442K	Pelviscapular dysplasia, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 58234.	NM_001330677.2(TBX15):c.1350del (p.Pro451fs) GRCh37: Chr1:119427814 GRCh38: Chr1:118885191	TBX15	P345fs, P451fs	Pelviscapular dysplasia	Pathogenic (Nov 1, 2008)	no assertion criteria provided
Select item 58225.	NM_001330677.2(TBX15):c.1348del (p.Ile450fs) GRCh37: Chr1:119427816 GRCh38: Chr1:118885193	TBX15	I344fs, I450fs	Pelviscapular dysplasia	Pathogenic (Nov 1, 2008)	no assertion criteria provided

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