ZDHHC20[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	CRYL1, EEF1AKMT1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 155024	GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1	CRYL1, EEF1AKMT1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 148030	GRCh38/hg38 13q12.11-12.12(chr13:21164677-22802191)x3	FGF9, LINC00424 +37 more	Copy number gain	See cases	GUncertain significance
Select item 2524830	NM_001330059.2(ZDHHC20):c.*41G>A	ZDHHC20 (G353D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192698	NM_001330059.2(ZDHHC20):c.1031A>G (p.Asn344Ser)	ZDHHC20 (N343S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480348	NM_001330059.2(ZDHHC20):c.962C>G (p.Pro321Arg)	ZDHHC20 (P258R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192702	NM_001330059.2(ZDHHC20):c.949G>C (p.Gly317Arg)	ZDHHC20 (G316R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617431	NM_001330059.2(ZDHHC20):c.896T>G (p.Met299Arg)	ZDHHC20 (M299R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347401	NM_001330059.2(ZDHHC20):c.880A>G (p.Thr294Ala)	ZDHHC20 (T231A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192701	NM_001330059.2(ZDHHC20):c.846A>G (p.Ile282Met)	ZDHHC20 (I219M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192700	NM_001330059.2(ZDHHC20):c.739G>A (p.Ala247Thr)	ZDHHC20 (A247T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508656	NM_001330059.2(ZDHHC20):c.737G>A (p.Arg246His)	ZDHHC20 (R183H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267466	NM_001330059.2(ZDHHC20):c.736C>T (p.Arg246Cys)	ZDHHC20 (R246C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221454	NM_001330059.2(ZDHHC20):c.634T>C (p.Phe212Leu)	ZDHHC20 (F149L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596038	NM_001330059.2(ZDHHC20):c.628G>A (p.Val210Ile)	ZDHHC20 (V147I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233145	NM_001330059.2(ZDHHC20):c.607G>A (p.Asp203Asn)	ZDHHC20 (D203N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512238	NM_001330059.2(ZDHHC20):c.593C>T (p.Thr198Met)	ZDHHC20 (T198M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306874	NM_001330059.2(ZDHHC20):c.568T>G (p.Leu190Val)	ZDHHC20 (L127V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605510	NM_001330059.2(ZDHHC20):c.553G>A (p.Val185Met)	ZDHHC20 (V122M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249986	NM_001330059.2(ZDHHC20):c.502T>C (p.Tyr168His)	ZDHHC20 (Y168H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334250	NM_001330059.2(ZDHHC20):c.332C>G (p.Ala111Gly)	ZDHHC20 (A111G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622565	NM_001330059.2(ZDHHC20):c.293T>C (p.Phe98Ser)	ZDHHC20 (F35S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334251	NM_001330059.2(ZDHHC20):c.233C>G (p.Ala78Gly)	ZDHHC20 (A15G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334249	NM_001330059.2(ZDHHC20):c.232G>T (p.Ala78Ser)	ZDHHC20 (A78S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534765	NM_001330059.2(ZDHHC20):c.151A>G (p.Thr51Ala)	ZDHHC20 (T51A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2406443	NM_001330059.2(ZDHHC20):c.100G>A (p.Val34Met)	ZDHHC20 (V34M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2252930	NM_001330059.2(ZDHHC20):c.14C>G (p.Thr5Arg)	ZDHHC20 (T5R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3244212	NC_000013.10:g.(?_20472281)_(24052335_?)del	CRYL1, EEF1AKMT1 +16 more	Deletion	not provided	GPathogenic
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1807676	GRCh37/hg19 13q12.11(chr13:21683287-22009220)x3	MRPL57, SAP18 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527752	GRCh37/hg19 13q12.11(chr13:22007337-22543058)	FGF9, MICU2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981009	GRCh37/hg19 13q12.11(chr13:21555059-22772929)x3	FGF9, LATS2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 981008	GRCh37/hg19 13q12.11(chr13:21683950-21963121)x3	MRPL57, SAP18 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815569	GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1	GJB6, IL17D +13 more	Copy number loss	not provided	GPathogenic
Select item 815567	GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	MPHOSPH8, FGF9 +27 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 686477	GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1	CRYL1, EEF1AKMT1 +14 more	Copy number loss	not provided	GPathogenic
Select item 685307	GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GPathogenic
Select item 625812	GRCh37/hg19 13q12.11(chr13:19540031-22849981)	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564075	GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	ATP12A, C1QTNF9 +30 more	Copy number loss	not provided	GPathogenic
Select item 564016	GRCh37/hg19 13q12.11(chr13:21784664-22029695)x1	ZDHHC20	Copy number loss	not provided	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 75