Related gene-specific medical variations for Gene (Select 89869) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214618	NM_033123.4(PLCZ1):c.937T>A (p.Ser313Thr)	PIK3C2G, PLCZ1 (S209T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214617	NM_033123.4(PLCZ1):c.502T>G (p.Ser168Ala)	PIK3C2G, PLCZ1 (S168A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214614	NM_033123.4(PLCZ1):c.448T>C (p.Cys150Arg)	PIK3C2G, PLCZ1 (C46R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214613	NM_033123.4(PLCZ1):c.1508A>G (p.Lys503Arg)	PIK3C2G, PLCZ1 (K310R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214612	NM_033123.4(PLCZ1):c.1055T>C (p.Leu352Pro)	PIK3C2G, PLCZ1 (L159P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033794	NM_033123.4(PLCZ1):c.1788G>A (p.Glu596=)	PIK3C2G, PLCZ1	Single nucleotide variant (synonymous variant)	PLCZ1-related disorder	GLikely benign
Select item 2642768	NM_033123.4(PLCZ1):c.1119T>C (p.Phe373=)	PIK3C2G, PLCZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642767	NM_001288772.2(PIK3C2G):c.4309-8G>A	PIK3C2G, PLCZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2608846	NM_033123.4(PLCZ1):c.1231A>T (p.Thr411Ser)	PIK3C2G, PLCZ1 (T218S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2558154	NM_033123.4(PLCZ1):c.1549A>G (p.Asn517Asp)	PIK3C2G, PLCZ1 (N324D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475766	NM_033123.4(PLCZ1):c.1015A>G (p.Lys339Glu)	PIK3C2G, PLCZ1 (K339E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455109	NM_033123.4(PLCZ1):c.265G>C (p.Ala89Pro)	PIK3C2G, PLCZ1 (A89P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2403371	NM_033123.4(PLCZ1):c.946C>T (p.Arg316Cys)	PIK3C2G, PLCZ1 (R316C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394150	NM_033123.4(PLCZ1):c.1013A>G (p.Lys338Arg)	PIK3C2G, PLCZ1 (K338R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381588	NM_033123.4(PLCZ1):c.856T>G (p.Ser286Ala)	PIK3C2G, PLCZ1 (S182A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375455	NM_033123.4(PLCZ1):c.947G>A (p.Arg316His)	PIK3C2G, PLCZ1 (R123H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338554	NM_033123.4(PLCZ1):c.1310C>G (p.Thr437Ser)	PIK3C2G, PLCZ1 (T333S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319361	NM_033123.4(PLCZ1):c.1750C>T (p.Arg584Cys)	PIK3C2G, PLCZ1 (R480C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304057	NM_033123.4(PLCZ1):c.217A>G (p.Ile73Val)	PIK3C2G, PLCZ1 (I73V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2289212	NM_033123.4(PLCZ1):c.976G>A (p.Val326Ile)	PIK3C2G, PLCZ1 (V222I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284643	NM_001288772.2(PIK3C2G):c.4312G>A (p.Val1438Ile)	PIK3C2G, PLCZ1 (V1438I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277318	NM_033123.4(PLCZ1):c.1280G>A (p.Gly427Asp)	PIK3C2G, PLCZ1 (G234D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252049	NM_033123.4(PLCZ1):c.1072G>C (p.Ala358Pro)	PIK3C2G, PLCZ1 (A254P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245415	NM_033123.4(PLCZ1):c.1172G>A (p.Arg391Gln)	PIK3C2G, PLCZ1 (R287Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237054	NM_001288772.2(PIK3C2G):c.4448A>G (p.Asn1483Ser)	PIK3C2G, PLCZ1 (N1442S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222582	NM_033123.4(PLCZ1):c.1648G>T (p.Ala550Ser)	PIK3C2G, PLCZ1 (A357S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213967	NM_033123.4(PLCZ1):c.1136T>C (p.Ile379Thr)	PIK3C2G, PLCZ1 (I379T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204514	NM_033123.4(PLCZ1):c.315G>T (p.Met105Ile)	PIK3C2G, PLCZ1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2148203	NM_033123.4(PLCZ1):c.957_960del (p.Asn319fs)	PLCZ1, PIK3C2G (N126fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2069975	NM_033123.4(PLCZ1):c.1662del (p.Phe554fs)	PIK3C2G, PLCZ1 (F554fs +2 more)	Deletion (frameshift variant)	not provided	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 1298540	NM_033123.4(PLCZ1):c.171A>G (p.Ile57Met)	PIK3C2G, PLCZ1 (I57M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1298539	NM_033123.4(PLCZ1):c.280C>T (p.Gln94Ter)	PIK3C2G, PLCZ1 (Q94*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1165259	NM_033123.4(PLCZ1):c.360C>G (p.Ile120Met)	PIK3C2G, PLCZ1 (I120M +1 more)	Single nucleotide variant (missense variant +1 more)	PLCZ1-related disorder +1 more	GBenign
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 disorder	GLikely pathogenic

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Links from Gene

Items: 43