C1275116[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433453	NM_001171.6(ABCC6):c.4209-2A>C	ABCC6	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6563	NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)	ABCC6 (W1259fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 6574	NM_001171.6(ABCC6):c.3736-1G>A	ABCC6	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 381638	NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)	ABCC6 (R807Q +1 more)	Single nucleotide variant (missense variant)	ABCC6-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 433372	NM_001171.6(ABCC6):c.37-1G>A	ABCC6	Single nucleotide variant (splice acceptor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 1679169	NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter)	ABCC6 (C8*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 2580302	GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1	ABCC1, ABCC6 +6 more	Copy number loss	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic

ClinVar