CDC27[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696853	NM_001256.6(CDC27):c.1777G>A (p.Ala593Thr)	CDC27 (A195T +5 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary artery atresia	GPathogenic
Select item 2647872	NM_001256.6(CDC27):c.1758A>G (p.Ala586=)	CDC27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 782550	NM_001256.6(CDC27):c.858A>G (p.Pro286=)	CDC27	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 3257195	NM_001256.6(CDC27):c.717A>T (p.Val239=)	CDC27	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2647873	NM_001256.6(CDC27):c.501A>T (p.Thr167=)	CDC27	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3068051	NM_001256.6(CDC27):c.27+2T>C	CDC27	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 691419	NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)	CDC27 (T2A)	Single nucleotide variant (missense variant +2 more)	Esophageal atresia +1 more	GUncertain significance
Select item 1340686	GRCh37/hg19 17q21.32(chr17:45080707-45281405)x3	CDC27	Copy number gain	not provided	GLikely benign

ClinVar