ClinVar for MedGen (Select 326394) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627757	NM_004654.4(USP9Y):c.6343G>T (p.Gly2115Cys)	USP9Y (G2115C)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2438505	NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)	USP9Y (T1975I)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2438504	NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)	USP9Y (L1279V)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 1518294	NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)	CFTR (R153K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 9757	NM_004654.4(USP9Y):c.773+3_773+6del	USP9Y	Microsatellite (splice donor variant)	Spermatogenic failure, Y-linked, 2	GPathogenic
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic

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