ZDHHC19[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	LOC123464501, LOC123464502 +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 59687	GRCh38/hg38 3q29(chr3:195917073-196336765)x3	DYNLT2B, LINC00885 +41 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 2206867	NM_001039617.2(ZDHHC19):c.922G>T (p.Ala308Ser)	ZDHHC19 (A308S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589107	NM_001039617.2(ZDHHC19):c.853T>C (p.Ser285Pro)	ZDHHC19 (S285P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261608	NM_001039617.2(ZDHHC19):c.724G>C (p.Gly242Arg)	ZDHHC19 (G242R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192691	NM_001039617.2(ZDHHC19):c.721C>A (p.Gln241Lys)	ZDHHC19 (Q241K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192690	NM_001039617.2(ZDHHC19):c.718G>A (p.Asp240Asn)	ZDHHC19 (D240N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296396	NM_001039617.2(ZDHHC19):c.664G>A (p.Ala222Thr)	ZDHHC19 (A222T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337058	NM_001039617.2(ZDHHC19):c.503C>T (p.Ser168Leu)	ZDHHC19 (S168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316982	NM_001039617.2(ZDHHC19):c.463C>G (p.Arg155Gly)	ZDHHC19 (R155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192689	NM_001039617.2(ZDHHC19):c.440A>T (p.Asn147Ile)	ZDHHC19 (N147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389007	NM_001039617.2(ZDHHC19):c.362G>A (p.Arg121His)	ZDHHC19 (R121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330751	NM_001039617.2(ZDHHC19):c.361C>T (p.Arg121Cys)	ZDHHC19 (R121C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459217	NM_001039617.2(ZDHHC19):c.336A>C (p.Gln112His)	ZDHHC19 (Q112H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192688	NM_001039617.2(ZDHHC19):c.328C>T (p.Arg110Cys)	ZDHHC19 (R110C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192687	NM_001039617.2(ZDHHC19):c.299A>G (p.His100Arg)	ZDHHC19 (H100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477097	NM_001039617.2(ZDHHC19):c.229G>A (p.Val77Ile)	ZDHHC19 (V77I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2470379	NM_001039617.2(ZDHHC19):c.215C>T (p.Thr72Ile)	ZDHHC19 (T72I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192686	NM_001039617.2(ZDHHC19):c.196G>A (p.Gly66Ser)	ZDHHC19 (G66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565863	NM_001039617.2(ZDHHC19):c.143T>G (p.Phe48Cys)	ZDHHC19 (F48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545695	NM_001039617.2(ZDHHC19):c.128G>A (p.Gly43Asp)	ZDHHC19 (G43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654508	NM_001039617.2(ZDHHC19):c.120T>C (p.Phe40=)	ZDHHC19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2488436	NM_001039617.2(ZDHHC19):c.118T>C (p.Phe40Leu)	ZDHHC19 (F40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471334	NM_001039617.2(ZDHHC19):c.115G>C (p.Val39Leu)	ZDHHC19 (V39L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276802	NM_001039617.2(ZDHHC19):c.61C>T (p.Pro21Ser)	ZDHHC19 (P21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541035	NM_001039617.2(ZDHHC19):c.43C>T (p.His15Tyr)	ZDHHC19 (H15Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2558560	NM_001039617.2(ZDHHC19):c.26C>T (p.Pro9Leu)	ZDHHC19 (P9L)	Single nucleotide variant (missense variant +1 more)	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 3062683	GRCh37/hg19 3q29(chr3:195792450-196145838)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not specified	GUncertain significance
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 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	PIGX, SENP5 +26 more	Duplication	not provided	GUncertain significance
Select item 1809391	GRCh37/hg19 3q29(chr3:195725291-195968808)x3	TFRC, PCYT1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809243	GRCh37/hg19 3q29(chr3:195790857-196543483)x1	CEP19, DYNLT2B +13 more	Copy number loss	not provided	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 1340723	GRCh37/hg19 3q29(chr3:195914129-196804639)x1	CEP19, DLG1 +17 more	Copy number loss	not provided	GPathogenic
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 1015396	NC_000003.11:g.(?_195754030)_(196438852_?)dup	CEP19, DYNLT2B +11 more	Duplication	not provided	GUncertain significance
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 988913	GRCh37/hg19 3q29(chr3:194498718-196196789)x1	ACAP2, APOD +15 more	Copy number loss	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 816511	GRCh37/hg19 3q29(chr3:195652973-197346971)x1	BDH1, WDR53 +19 more	Copy number loss	See cases	GPathogenic
Select item 814512	GRCh37/hg19 3q29(chr3:195848341-196426606)x3	UBXN7, ZDHHC19 +9 more	Copy number gain	not provided	GUncertain significance
Select item 814511	GRCh37/hg19 3q29(chr3:195796048-196145269)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687286	GRCh37/hg19 3q29(chr3:195573221-196124278)x3	DYNLT2B, PCYT1A +7 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

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