ClinVar for MedGen (Select 934633) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578007	NM_033123.4(PLCZ1):c.1358G>A (p.Gly453Asp)	PIK3C2G, PLCZ1 (G260D +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 17	GPathogenic
Select item 2578006	NM_033123.4(PLCZ1):c.136-1G>C	PIK3C2G, PLCZ1	Single nucleotide variant (5 prime UTR variant +2 more)	Spermatogenic failure 17	GPathogenic
Select item 2578005	NM_033123.4(PLCZ1):c.1274A>G (p.Asn425Ser)	PIK3C2G, PLCZ1 (N232S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 17	GPathogenic
Select item 2578004	NM_033123.4(PLCZ1):c.1174+3A>C	PIK3C2G, PLCZ1	Single nucleotide variant (intron variant)	Spermatogenic failure 17	GPathogenic
Select item 1324931	NM_033123.4(PLCZ1):c.193C>T (p.Arg65Ter)	PIK3C2G, PLCZ1 (R65*)	Single nucleotide variant (5 prime UTR variant +2 more)	Spermatogenic failure 17	GLikely pathogenic
Select item 1031034	NM_033123.4(PLCZ1):c.1154G>A (p.Arg385Gln)	PIK3C2G, PLCZ1 (R281Q +2 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 17	GUncertain significance
Select item 978091	NM_033123.4(PLCZ1):c.736C>T (p.Leu246Phe)	PIK3C2G, PLCZ1 (L142F +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 17	GPathogenic
Select item 978090	NM_033123.4(PLCZ1):c.1048T>C (p.Ser350Pro)	PIK3C2G, PLCZ1 (S157P +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 17	GPathogenic
Select item 978089	NM_033123.4(PLCZ1):c.588C>A (p.Cys196Ter)	PIK3C2G, PLCZ1 (C92*)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 17	GPathogenic
Select item 271283	NM_033123.4(PLCZ1):c.1465A>T (p.Ile489Phe)	PIK3C2G, PLCZ1 (I489F +2 more)	Single nucleotide variant (missense variant)	PLCZ1-related condition	GLikely pathogenic