ClinVar for Gene (Select 80235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212861	NM_025163.4(PIGZ):c.940C>T (p.Arg314Trp)	PIGZ (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212860	NM_025163.4(PIGZ):c.82C>G (p.Leu28Val)	PIGZ (L28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212859	NM_025163.4(PIGZ):c.680G>A (p.Arg227Gln)	PIGZ (R227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212858	NM_025163.4(PIGZ):c.635G>T (p.Arg212Leu)	PIGZ (R212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212857	NM_025163.4(PIGZ):c.617C>T (p.Ala206Val)	PIGZ (A206V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3212856	NM_025163.4(PIGZ):c.614C>T (p.Pro205Leu)	PIGZ (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212855	NM_025163.4(PIGZ):c.590C>G (p.Thr197Arg)	PIGZ (T197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212854	NM_025163.4(PIGZ):c.446C>T (p.Pro149Leu)	PIGZ (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212853	NM_025163.4(PIGZ):c.236C>T (p.Ala79Val)	PIGZ (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212851	NM_025163.4(PIGZ):c.1463G>A (p.Gly488Glu)	PIGZ (G488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212850	NM_025163.4(PIGZ):c.1438G>A (p.Ala480Thr)	PIGZ (A480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212849	NM_025163.4(PIGZ):c.1411C>T (p.His471Tyr)	PIGZ (H471Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212848	NM_025163.4(PIGZ):c.1282G>A (p.Gly428Ser)	PIGZ (G428S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212847	NM_025163.4(PIGZ):c.1261G>A (p.Ala421Thr)	PIGZ (A421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212846	NM_025163.4(PIGZ):c.1106A>G (p.Tyr369Cys)	PIGZ (Y369C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3062702	GRCh37/hg19 3q29(chr3:196657995-197656512)x1	BDH1, DLG1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3024894	NM_025163.4(PIGZ):c.464G>A (p.Arg155His)	PIGZ (R155H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654520	NM_025163.4(PIGZ):c.300T>C (p.Ser100=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654519	NM_025163.4(PIGZ):c.345G>A (p.Pro115=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654518	NM_025163.4(PIGZ):c.371C>T (p.Ala124Val)	PIGZ (A124V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654517	NM_025163.4(PIGZ):c.447G>A (p.Pro149=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654516	NM_025163.4(PIGZ):c.1011G>A (p.Ala337=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654515	NM_025163.4(PIGZ):c.1140G>A (p.Leu380=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654514	NM_025163.4(PIGZ):c.1272C>T (p.Ala424=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654513	NM_025163.4(PIGZ):c.1404C>T (p.Pro468=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2607115	NM_025163.4(PIGZ):c.1682G>A (p.Ser561Asn)	PIGZ (S561N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603815	NM_025163.4(PIGZ):c.1267G>A (p.Gly423Ser)	PIGZ (G423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597484	NM_025163.4(PIGZ):c.494C>T (p.Ser165Phe)	PIGZ (S165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589362	NM_025163.4(PIGZ):c.1220C>T (p.Thr407Met)	PIGZ (T407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553102	NM_025163.4(PIGZ):c.1442C>T (p.Pro481Leu)	PIGZ (P481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533729	NM_025163.4(PIGZ):c.1276C>G (p.Leu426Val)	PIGZ (L426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521325	NM_025163.4(PIGZ):c.595G>A (p.Gly199Ser)	PIGZ (G199S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510597	NM_025163.4(PIGZ):c.1055G>A (p.Gly352Asp)	PIGZ (G352D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508923	NM_025163.4(PIGZ):c.239G>A (p.Arg80Gln)	PIGZ (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	FBXO45, LOC129938278 +113 more	Copy number loss	See cases	GPathogenic
Select item 2487170	NM_025163.4(PIGZ):c.1453G>T (p.Val485Leu)	PIGZ (V485L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460557	NM_025163.4(PIGZ):c.16T>C (p.Ser6Pro)	PIGZ (S6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	PIGX, SENP5 +26 more	Duplication	not provided	GUncertain significance
Select item 2408973	NM_025163.4(PIGZ):c.1078C>T (p.Arg360Trp)	PIGZ (R360W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392531	NM_025163.4(PIGZ):c.604C>T (p.Arg202Cys)	PIGZ (R202C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386661	NM_025163.4(PIGZ):c.938C>T (p.Ala313Val)	PIGZ (A313V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376262	NM_025163.4(PIGZ):c.1030G>A (p.Gly344Ser)	PIGZ (G344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366672	NM_025163.4(PIGZ):c.458C>T (p.Ala153Val)	PIGZ (A153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362454	NM_025163.4(PIGZ):c.1456G>C (p.Asp486His)	PIGZ (D486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359619	NM_025163.4(PIGZ):c.864C>A (p.Asn288Lys)	PIGZ (N288K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350089	NM_025163.4(PIGZ):c.932C>T (p.Thr311Met)	PIGZ (T311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344718	NM_025163.4(PIGZ):c.794C>T (p.Ala265Val)	PIGZ (A265V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2341147	NM_025163.4(PIGZ):c.850G>A (p.Ala284Thr)	PIGZ (A284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301769	NM_025163.4(PIGZ):c.1463G>C (p.Gly488Ala)	PIGZ (G488A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297480	NM_025163.4(PIGZ):c.1427C>T (p.Pro476Leu)	PIGZ (P476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272266	NM_025163.4(PIGZ):c.164G>C (p.Gly55Ala)	PIGZ (G55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269400	NM_025163.4(PIGZ):c.344C>T (p.Pro115Leu)	PIGZ (P115L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267594	NM_025163.4(PIGZ):c.1603A>G (p.Ser535Gly)	PIGZ (S535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260910	NM_025163.4(PIGZ):c.718C>A (p.Leu240Ile)	PIGZ (L240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256291	NM_025163.4(PIGZ):c.719T>C (p.Leu240Pro)	PIGZ (L240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246305	NM_025163.4(PIGZ):c.421G>A (p.Asp141Asn)	PIGZ (D141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244777	NM_025163.4(PIGZ):c.1420C>T (p.His474Tyr)	PIGZ (H474Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235400	NM_025163.4(PIGZ):c.890T>G (p.Leu297Trp)	PIGZ (L297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233363	NM_025163.4(PIGZ):c.982G>T (p.Val328Leu)	PIGZ (V328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224470	NM_025163.4(PIGZ):c.100G>A (p.Val34Ile)	PIGZ (V34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220162	NM_025163.4(PIGZ):c.476T>G (p.Leu159Arg)	PIGZ (L159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218376	NM_025163.4(PIGZ):c.443C>A (p.Ala148Asp)	PIGZ (A148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214564	NM_025163.4(PIGZ):c.821C>T (p.Ala274Val)	PIGZ (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212219	NM_025163.4(PIGZ):c.271C>T (p.Arg91Cys)	PIGZ (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211180	NM_025163.4(PIGZ):c.1169G>A (p.Arg390Gln)	PIGZ (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208283	NM_025163.4(PIGZ):c.979G>A (p.Gly327Arg)	PIGZ (G327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1679598	Single allele	LOC129938259, LOC129938260 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1340723	GRCh37/hg19 3q29(chr3:195914129-196804639)x1	CEP19, DLG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1172568	GRCh37/hg19 3q29(chr3:195693872-197376871)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	Grisk factor
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	PIGX, PIGZ +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997046	GRCh37/hg19 3q29(chr3:195747856-197387258)	SENP5, SLC51A +19 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 980657	GRCh37/hg19 3q29(chr3:196552734-197498996)x3	RUBCN, BDH1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 973078	GRCh37/hg19 3q29(chr3:196381502-196771786)x3	CEP19, DLG1 +7 more	Copy number gain	not provided	Gnot provided
Select item 816511	GRCh37/hg19 3q29(chr3:195652973-197346971)x1	BDH1, WDR53 +19 more	Copy number loss	See cases	GPathogenic
Select item 814514	GRCh37/hg19 3q29(chr3:196592131-196919105)x3	PIGZ, MELTF +3 more	Copy number gain	not provided	GUncertain significance
Select item 686190	GRCh37/hg19 3q29(chr3:195700698-197386180)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 686054	GRCh37/hg19 3q29(chr3:195701149-197348561)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562870	GRCh37/hg19 3q29(chr3:196586363-196952733)x3	PIGZ, MELTF +3 more	Copy number gain	not provided	GUncertain significance
Select item 562868	GRCh37/hg19 3q29(chr3:195725290-197356334)x3	RNF168, NRROS +19 more	Copy number gain	not provided	GPathogenic
Select item 562867	GRCh37/hg19 3q29(chr3:195725290-197339848)x3	DYNLT2B, MELTF +19 more	Copy number gain	not provided	GPathogenic
Select item 562866	GRCh37/hg19 3q29(chr3:195725290-197015654)x1	SLC51A, PCYT1A +18 more	Copy number loss	not provided	GPathogenic
Select item 562865	GRCh37/hg19 3q29(chr3:195703615-197356334)x3	CEP19, DLG1 +19 more	Copy number gain	not provided	GPathogenic
Select item 562864	GRCh37/hg19 3q29(chr3:195703615-197348575)x1	SENP5, SLC51A +19 more	Copy number loss	not provided	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic

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