"3billion"[submitter] AND "ABCC6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433401	NM_001171.6(ABCC6):c.3507-1G>A	ABCC6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 2572576	NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)	ABCC6 (E565* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 30339	NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)	ABCC6 (R518* +1 more)	Single nucleotide variant (nonsense +1 more)	Arterial calcification, generalized, of infancy, 2 +4 more	GPathogenic
Select item 2064422	NM_001171.6(ABCC6):c.1288del (p.Leu430fs)	ABCC6 (L316fs +1 more)	Deletion (frameshift variant +1 more)	Pseudoxanthoma elasticum, forme fruste +1 more	GPathogenic/Likely pathogenic
Select item 430158	NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)	ABCC6 (R419Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic/Likely pathogenic
Select item 1705443	NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)	ABCC6 (S269* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic

ClinVar