"OMIM"[submitter] AND "PNLDC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184272	NM_001271862.2(PNLDC1):c.136dup (p.Leu46fs)	PNLDC1 (L35fs +1 more)	Duplication (frameshift variant)	Spermatogenic failure 57	GPathogenic
Select item 1343825	NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly)	PNLDC1 (R47G +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 57	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 1184273	NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr)	PNLDC1 (M259T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 57	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

ClinVar