C2751811[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305421	NM_053054.4(CATSPER1):c.1954G>A (p.Val652Ile)	CATSPER1 (V652I)	Single nucleotide variant (missense variant)	Spermatogenic failure 7 +1 more	GBenign
Select item 305433	NM_053054.4(CATSPER1):c.1222C>A (p.Arg408=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7 +1 more	GBenign
Select item 805531	NM_153700.2(STRC):c.4917A>C (p.Leu1639=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +3 more	GBenign/Likely benign
Select item 505435	NM_153700.2(STRC):c.4219-1G>A	STRC	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 16 +4 more	GPathogenic/Likely pathogenic
Select item 165315	NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)	STRC (R1224*)	Single nucleotide variant (nonsense)	Rare genetic deafness +4 more	GPathogenic
Select item 165318	NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)	STRC (C1092Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +5 more	GUncertain significance

ClinVar