C1275116[trait identifier] AND "Reproductive Health Research and Devel - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194471	NM_000392.5(ABCC2):c.1967+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	ABCC2-related condition +1 more	GPathogenic/Likely pathogenic
Select item 433370	NM_001171.6(ABCC6):c.*38G>A	ABCC6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign
Select item 433357	NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign/Likely benign
Select item 433418	NM_001171.6(ABCC6):c.3883-24G>A	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +4 more	GBenign
Select item 419855	NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)	ABCC6 (V787I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 433375	NM_001171.6(ABCC6):c.600+23C>T	ABCC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 433286	NM_001171.6(ABCC6):c.346-6G>A	ABCC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 127238	NM_022166.4(XYLT1):c.1588-3C>T	XYLT1, LOC102723692	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GLikely benign

ClinVar