PIGZ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	ACAP2, APOD +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	ACAP2, APOD +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	ACAP2, APOD +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	BDH1, CEP19 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	BDH1, CEP19 +133 more	Copy number gain	See cases	GPathogenic
Select item 1679598	Single allele	LOC129938299, LOC129938300 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 545293	Single allele	BDH1, CEP19 +114 more	Duplication	Autism	GLikely pathogenic
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	FBXO45, LOC129938278 +113 more	Copy number loss	See cases	GPathogenic
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	PIGX, PIGZ +111 more	Copy number loss	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	BDH1, CEP19 +110 more	Copy number gain	See cases	GUncertain significance
Select item 59982	GRCh38/hg38 3q29(chr3:195965316-197625573)x3	BDH1, CEP19 +109 more	Copy number gain	See cases	GPathogenic
Select item 59983	GRCh38/hg38 3q29(chr3:195972720-197658495)x3	BDH1, CEP19 +113 more	Copy number gain	See cases	GPathogenic
Select item 148628	GRCh38/hg38 3q29(chr3:195974291-197597912)x1	BDH1, CEP19 +109 more	Copy number loss	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	BDH1, CEP19 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 59984	GRCh38/hg38 3q29(chr3:195997494-197662231)x3	PCYT1A, PIGX +111 more	Copy number gain	See cases	GPathogenic
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 57328	GRCh38/hg38 3q29(chr3:196013486-197503306)x3	CEP19, DLG1 +102 more	Copy number gain	See cases	GPathogenic
Select item 34369	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59986	GRCh38/hg38 3q29(chr3:196035777-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59985	GRCh38/hg38 3q29(chr3:196035777-197606438)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 59289	GRCh38/hg38 3q29(chr3:196035777-197625573)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59288	GRCh38/hg38 3q29(chr3:196035777-197658540)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 57492	GRCh38/hg38 3q29(chr3:196077857-197165715)x1	CEP19, DLG1 +89 more	Copy number loss	See cases	GPathogenic
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 152924	GRCh38/hg38 3q29(chr3:196832991-197182319)x3	DLG1, LOC121048736 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152925	GRCh38/hg38 3q29(chr3:196841258-197590173)x3	BDH1, DLG1 +35 more	Copy number gain	See cases	GUncertain significance
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 2267594	NM_025163.4(PIGZ):c.1603A>G (p.Ser535Gly)	PIGZ (S535G)	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 2301769	NM_025163.4(PIGZ):c.1463G>C (p.Gly488Ala)	PIGZ (G488A)	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 2487170	NM_025163.4(PIGZ):c.1453G>T (p.Val485Leu)	PIGZ (V485L)	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 3212850	NM_025163.4(PIGZ):c.1438G>A (p.Ala480Thr)	PIGZ (A480T)	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 2244777	NM_025163.4(PIGZ):c.1420C>T (p.His474Tyr)	PIGZ (H474Y)	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 2654513	NM_025163.4(PIGZ):c.1404C>T (p.Pro468=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2533729	NM_025163.4(PIGZ):c.1276C>G (p.Leu426Val)	PIGZ (L426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654514	NM_025163.4(PIGZ):c.1272C>T (p.Ala424=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3212847	NM_025163.4(PIGZ):c.1261G>A (p.Ala421Thr)	PIGZ (A421T)	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 2211180	NM_025163.4(PIGZ):c.1169G>A (p.Arg390Gln)	PIGZ (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654515	NM_025163.4(PIGZ):c.1140G>A (p.Leu380=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2408973	NM_025163.4(PIGZ):c.1078C>T (p.Arg360Trp)	PIGZ (R360W)	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 2376262	NM_025163.4(PIGZ):c.1030G>A (p.Gly344Ser)	PIGZ (G344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654516	NM_025163.4(PIGZ):c.1011G>A (p.Ala337=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2208283	NM_025163.4(PIGZ):c.979G>A (p.Gly327Arg)	PIGZ (G327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2386661	NM_025163.4(PIGZ):c.938C>T (p.Ala313Val)	PIGZ (A313V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2235400	NM_025163.4(PIGZ):c.890T>G (p.Leu297Trp)	PIGZ (L297W)	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 2341147	NM_025163.4(PIGZ):c.850G>A (p.Ala284Thr)	PIGZ (A284T)	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 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 2256291	NM_025163.4(PIGZ):c.719T>C (p.Leu240Pro)	PIGZ (L240P)	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 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 2392531	NM_025163.4(PIGZ):c.604C>T (p.Arg202Cys)	PIGZ (R202C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3212855	NM_025163.4(PIGZ):c.590C>G (p.Thr197Arg)	PIGZ (T197R)	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 2220162	NM_025163.4(PIGZ):c.476T>G (p.Leu159Arg)	PIGZ (L159R)	Single nucleotide variant (missense variant)	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 2366672	NM_025163.4(PIGZ):c.458C>T (p.Ala153Val)	PIGZ (A153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654517	NM_025163.4(PIGZ):c.447G>A (p.Pro149=)	PIGZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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