ClinVar for MedGen (Select 1616860) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15854461.	NM_004766.3(COPB2):c.342T>C (p.Ile114=) GRCh37: Chr3:139097902 GRCh38: Chr3:139379060	COPB2		Microcephaly 19, primary, autosomal recessive, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12554022.	NM_004766.3(COPB2):c.1095-23T>C GRCh37: Chr3:139090698 GRCh38: Chr3:139371856	COPB2		Microcephaly 19, primary, autosomal recessive	Benign (Jul 30, 2021)	criteria provided, single submitter
Select item 12554013.	NM_004766.3(COPB2):c.2626-20C>A GRCh37: Chr3:139076820 GRCh38: Chr3:139357978	COPB2		Microcephaly 19, primary, autosomal recessive, not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12249364.	NM_004766.3(COPB2):c.141+20G>T GRCh37: Chr3:139102120 GRCh38: Chr3:139383278	COPB2		not provided, Microcephaly 19, primary, autosomal recessive	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4467135.	NM_004766.3(COPB2):c.760C>T (p.Arg254Cys) GRCh37: Chr3:139092642 GRCh38: Chr3:139373800	COPB2	R254C	Microcephaly 19, primary, autosomal recessive	Pathogenic (May 24, 2022)	no assertion criteria provided

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