"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930520	NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile)	ABCC6 (V1184I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6559	NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	ABCC6 (R1141* +1 more)	Single nucleotide variant (nonsense)	ABCC6-related disorder +7 more	GPathogenic
Select item 930527	NM_001171.6(ABCC6):c.2836del (p.Leu946fs)	ABCC6 (L946fs +1 more)	Deletion (frameshift variant +1 more)	Arterial calcification, generalized, of infancy, 2	GLikely pathogenic
Select item 433259	NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp)	ABCC6 (E699D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +2 more	GConflicting classifications of pathogenicity
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 433220	NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp)	ABCC6 (N370D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar