ClinVar for MedGen (Select 1780127) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24352761.	NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter) GRCh37: Chr18:12718604 GRCh38: Chr18:12718605	PSMG2	S126, S95	Proteasome-associated autoinflammatory syndrome 4	Uncertain significance (Jul 9, 2021)	criteria provided, single submitter
Select item 13424922.	NM_020232.5(PSMG2):c.582-1G>A GRCh37: Chr18:12724497 GRCh38: Chr18:12724498	PSMG2		not provided, Proteasome-associated autoinflammatory syndrome 4	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9970193.	NM_020232.5(PSMG2):c.675T>G (p.Asn225Lys) GRCh37: Chr18:12724591 GRCh38: Chr18:12724592	PSMG2	N225K, N194K	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 9970184.	NM_020232.5(PSMG2):c.666_667del (p.Tyr223fs) GRCh37: Chr18:12724582-12724583 GRCh38: Chr18:12724583-12724584	PSMG2	Y192fs, Y223fs	Proteasome-associated autoinflammatory syndrome 4	Pathogenic (Feb 17, 2021)	no assertion criteria provided

ClinVar