C5681165[trait identifier] AND "Joint Genome Diagnostic Labs from Nijm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3603	NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)	PROK2	Deletion (nonsense)	PROK2-related condition +3 more	GPathogenic
Select item 1184263	NM_001271862.2(PNLDC1):c.[136dup;809T>C]	PNLDC1 (L35fs +3 more)	Duplication (frameshift variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184262	NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser)	PNLDC1 (P84S +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184264	NM_001271862.2(PNLDC1):c.640-2A>T	PNLDC1	Single nucleotide variant (splice acceptor variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 1184261	NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter)	PNLDC1 (R452* +1 more)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GPathogenic
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 561716	NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	LZTR1 (R283Q)	Single nucleotide variant (missense variant)	RASopathy +5 more	GConflicting classifications of pathogenicity

ClinVar