C1848097[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1165870	NM_001711.6(BGN):c.141G>A (p.Ser47=)	BGN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1192382	NM_001711.6(BGN):c.238+75A>G	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1098726	NM_001711.6(BGN):c.257A>G (p.Lys86Arg)	BGN (K86R)	Single nucleotide variant (missense variant)	X-linked spondyloepimetaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 1166521	NM_001711.6(BGN):c.540C>T (p.Ser180=)	BGN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 1192383	NM_001711.6(BGN):c.771-32C>T	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 1192384	NM_001711.6(BGN):c.909+115T>C	BGN	Single nucleotide variant (intron variant)	X-linked spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 11299	NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	ABCD1 (G266R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 11307	NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	ABCD1 (R518W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar