"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975922	NM_005267.5(GJA8):c.145_146insCTC (p.Glu48_Gln49insPro)	GJA8	Insertion (inframe_insertion)	Cataract 1 multiple types	GUncertain significance
Select item 2580347	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3	ACP6, BCL9 +8 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580307	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1	ACP6, BCL9 +8 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580296	GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1330159	GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3	ACP6, BCL9 +8 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

ClinVar