"Baylor Genetics"[submitter] AND "GJA8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030900	NM_005267.5(GJA8):c.163A>G (p.Asn55Asp)	GJA8 (N55D)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GUncertain significance
Select item 625818	GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678)	NBPF12, PDZK1 +10 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 625685	GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122)	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 625652	GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678)	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 625536	GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122)	ACP6, ANKRD34A +27 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 374371	Single allele	ACP6, BCL9 +6 more	Deletion	Chromosome 1q21.1 deletion syndrome	GPathogenic

ClinVar