C1275116[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	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 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 6560	NM_001171.6(ABCC6):c.2787+1G>T	ABCC6	Single nucleotide variant (splice donor variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GPathogenic
Select item 1033353	NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr)	ABCC6 (I632T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GUncertain significance
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 1030271	NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val)	ABCC6 (A291V +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +2 more	GUncertain significance
Select item 143120	NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)	ABCC6 (R265G +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +4 more	GBenign/Likely benign
Select item 1033356	NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg)	ABCC6 (G157R +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GUncertain significance