C0021364[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45153	NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)	MYO6 (R1059T +1 more)	Single nucleotide variant (missense variant +1 more)	Infertility disorder +6 more	GConflicting classifications of pathogenicity
Select item 35867	NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	CFTR (D1152H)	Single nucleotide variant (missense variant)	ivacaftor response - Efficacy	Gdrug response
Select item 216677	NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)	DNAI1 (R650C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 305413	NM_053054.4(CATSPER1):c.*122AG[1]	CATSPER1	Microsatellite (3 prime UTR variant)	Male infertility	GUncertain significance
Select item 305418	NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)	CATSPER1 (T703M)	Single nucleotide variant (missense variant)	Male infertility +1 more	GUncertain significance
Select item 305453	NM_053054.4(CATSPER1):c.-23del	CATSPER1	Deletion (5 prime UTR variant)	Male infertility	GUncertain significance
Select item 305454	NM_053054.4(CATSPER1):c.-25del	CATSPER1	Deletion (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 260979	NM_017950.4(CCDC40):c.850G>C (p.Asp284His)	CCDC40 (D284H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

ClinVar